Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele

Haematologica

Volumn 92, Issue 12, 2007, Pages 1715-1716

  Agarwal, Neeraj ^a   Kutlar, Ferdane ^b   Mojica Henshaw, Mariluz P ^a   Ou, Ching N ^c   Gaikwad, Amos ^c   Reading, N Scott ^d   Bailey, Lakeia ^b   Kutlar, Abdullah ^b   Prchal, Josef T ^a,d,e  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d ARUP LABORATORIES   (United States)

^e UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; FERRITIN; MESSENGER RNA; NUCLEOTIDE;

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; CELL DIFFERENTIATION; ERYTHROID PRECURSOR CELL; EXON; FEMALE; FERRITIN BLOOD LEVEL; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIVER BIOPSY; LIVER CELL; LIVER FIBROSIS; MACROPHAGE; MICROCYTIC ANEMIA; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; RETICULOCYTE; SIDEROSIS; WILD TYPE;

ADULT; ALLELES; EXONS; FEMALE; GENE EXPRESSION REGULATION; HEMOGLOBINS, ABNORMAL; HUMANS; MUTATION, MISSENSE; PEPTIDES; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 37049024105     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11543     Document Type: Article

References (9)

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